Written by Anna, published 26 days ago.
A long, difficult journey to discover a diagnosis.
Hi, my name is Anna, and I found out I have FMF in October 2004. I started having problems when I was 6 months old and since I can remember, the symptoms have always been the same.
I had a periodic high fever that lasted 3 days with extreme abdominal pains that prevented me from standing straight. I often had trouble breathing, due to the sharp chest pains. In the acute stage of an attack, I couldn't eat anything, because just swallowing the food would give me very painful esophagus and stomach cramps, accompanied with frequent vomiting.
The high fever would go away within three days, but the pain could last also for 15 days, anyway never less than a week. After the abdominal pains were gone, I usually had painful muscle pain, especially in the legs. The muscles would become tense and whenever I tried to walk the pain was unbearable. I also had articular pains in my ankles, wrists, shoulders, and in the small articulations of the hands and feet, sometimes also in the jaw bones. The doctors weren't able to determine a diagnosis, because they couldn't understand why I would get so sick and then get better without any cure. I've been through a lot of exams, often invasive and painful, I've been admitted to the hospital so many times and I've been seen by so many doctors who were studying my case to find what was wrong with me. I also had multiple surgeries, which, unfortunately, weren't helpful at all.
Most of the doctors who visited me, because they couldn't reach a diagnosis, thought that my disease was caused by a psychosomatic illness. Doctors blamed my parents for being the indirect cause of my symptoms, because they were giving me too much attention for being sick. They wouldn't consider that the hematochemical exams (that are not altered in case of a psychosomatic disease) were showing a high inflammatory state.
The fact the doctors didn't believe I was really sick and that they implied that my family was causing all this, was as painful as the disease itself. I had attacks every month, month and a half. The frequency and the duration of the attacks were jeopardizing all other aspects of my life, even though I tried to live as normal as possible, but this was surely a painful trial for me.
To be honest, some doctors I met never thought I was "imagining" my disease, but no matter how hard they tried, they were never able to find the cause of my suffering. It's also thanks to these doctors that I never gave up; they would always encourage me to keep fighting, even when all the antibiotics and anti-inflammatory medications I was taking caused what it's called the "pharmacological anorexia". My weight dropped to 45 kg and I was 175 cm in height.
It was the worst period of my life: I was 17 years old and I couldn't stand up. Due to my extreme weakness, I wasn't even able to sit and bear the weight of my head, so I had to lie in bed for months trying to reverse the effects of the wrong therapies. I was surviving thanks to the phleboclysis and to the hard work of a specialist who suspended all those unnecessary medicines and helped me by reintroducing my food intake little by little. I was feeling hungry – because the anorexia was caused by the medications, not by my mind – but my stomach had become as small as a 9 years old child’s.
This was also caused by the frequent fasting due to the multiple exams I had to go through almost on a daily basis. After I was out of that tunnel, my life didn't change much. I gained some weight, but I was still feeling sick and I couldn't gain more weight than 53-55 kg. When I was 35, I started thinking that I could have a rare disease and I did a lot of researches online. I compared my symptoms and after a long search, I started realizing that I could be suffering from FMF, but I needed a diagnosis from a doctor. I looked for and found one still online.
When I was 36 years old, I finally started the correct therapy with the colchicine (0.5mg in the morning and 0.5mg in the evening) and my life has completely changed!
I now have a normal life, I don't have any more abdominal pains or fever, just some mild and rare episodes, when I reach a high level of physical stress. Now I have the perfect weight of 64 kg for my height of 175 cm.
My mutation is in homozygosis c.2040G>A which entails the substitution of the amino acid with isoleucina at 680 (M680I).
I'm the only one in my large family who suffers from FMF. I inherited it from my parents, who are both symptom-free carriers.
After a painful journey of 36 years, I am now more than willing to prevent anybody else to go through such an ordeal, so I will do anything in my power to support and divulge all the information available on this disease.
Written by Anna, published 26 days ago.